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Query: UMLS:C0018801 (heart failure)
 72,216 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A new case of severe clinical phenotype of the cat-eye syndrome: We report on a female infant with severe clinical phenotype of Cat-Eye Syndrome (CES). At birth, she had respiratory distress and marked hypotonia. Physical examination showed major craniofacial anomalies including microcephaly, bilateral total absence of the external ears, hypertelorism, bilateral ocular coloboma of iris and micrognathia. In addition, she had anal stenosis, a patent ductus arteriosus and intra- and extra- hepatic biliary atresia. She deteriorated with the development of bradycardia. She died at age one month of cardiac failure. Cytogenetic analysis of the proband showed an extra de novo small bisatelllited marker chromosome in all cells examined. Molecular cytogenetic analysis with fluorescence in situ hybridization (FISH) identified the marker as a CES chromosome. Thus, the patient's karyotype was: 47, XX, +idic(22)(pter-->q11.2 ::q11.2-->pter). The duplication breakpoints giving rise to the CES chromosome were distal to the DiGeorge Syndrome (DGS) locus 22q11.2. The marker could be classed as a type 11 symmetrical (10). According to a recent review of CES literature (1) only 41 % of the CES patients have the combination of iris coloboma, anal anomalies and preauricular anomalies. Almost 60% are hard to recognize by their phenotype alone. Only twelve patients showed a severe clinical phenotype leading to the death of the child. This phenotypic variability increases the difficulties of genetic counseling.
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PMID:A new case of a severe clinical phenotype of the cat-eye syndrome. 1565 20

Considerable experimental and clinical data indicate that sex has an important influence on cardiovascular physiology and pathology. This report integrates selected literature with new data from the Women's Ischemia Syndrome Evaluation (WISE) on vascular findings in women with ischemic heart disease (IHD) and how these findings differ from those in men. A number of common vascular disease-related conditions are either unique to (e.g., hypertensive disorders of pregnancy, gestational diabetes, peripartum dissection, polycystic ovarian syndrome, etc.) or more frequent (e.g., migraine, coronary spasm, lupus, vasculitis, Raynaud's phenomenon, etc.) in women than men. Post-menopausal women more frequently have many traditional vascular disease risk conditions (e.g., hypertension, diabetes, obesity, inactivity, and so on), and these conditions cluster more frequently in them than men. Considerable evidence supports the notion that, with these requisite conditions, women develop a more severe or somewhat different form of vascular disease than men. Structurally, women's coronary vessels are smaller in size and appear to contain more diffuse atherosclerosis, their aortas are stiffer (fibrosis, remodeling, and so on), and their microvessels appear to be more frequently dysfunctional compared with men. Functionally, women's vessels frequently show impaired vasodilator responses. Limitations of existing data and higher risks in women with acute myocardial infarction, need for revascularization, or heart failure create uncertainty about management. A better understanding of these findings should provide direction for new algorithms to improve management of the vasculopathy underlying IHD in women.
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PMID:Some thoughts on the vasculopathy of women with ischemic heart disease. 1645 68

Generalized edema is commonly due to cardiac failure, renal changes, hepatic and metabolic disturbances, or it can be idiopathic, i.e. primitive lymphedema. Here we describe a patient with several episodes of fluid extravasation characterized by hypotension, hemoconcentration and functional renal insufficiency. These findings, associated to a monoclonal gammopathy, lead to the diagnosis of systemic capillary leak syndrome or Clarkson Syndrome. This rare and perplexing disorder, characterized by a typical three-phase clinical feature, is due to an endothelium permeability alteration, rather responsible of these paroxysmal manifestations. Interleukin-2-pathway is considered as one of the underlying mechanisms. During acute phase the patient underwent therapy with plasma-expanders and glucocorticoids, although in quiescent phase we administered aminophylline, salbutamol and prednisone. After three months, the patient is asymptomatic.
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PMID:[Clarkson syndrome: a rare clinical condition characterized by generalized edema associated to monoclonal gammopathy]. 1649 71

Despite a dramatic decline in mortality over the past years, coronary heart disease is the leading cause of death and disability in the world. At the same time, with the great improvement of medical science, there is a growing population of postmyocardial infarction, postrevascularisation and heart failure survivors. Furthermore, there are rising rates of cigarette smoking, obesity, hypertension and the metabolic syndrome in the world. All the above contribute to the rising incidence rates of ischaemic heart disease (IHD) among women and men. This review highlights sex-specific issues in IHD presentation, evaluation and outcomes, with several new results published from the Women's Ischemia Syndrome Evaluation study. New evidence on traditional and novel risk markers as well as sex-specific differences in symptoms and diagnostic approaches have also been discussed.
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PMID:Recent development of ischaemic heart disease in sex difference. 1740 50

The significance of a history of heart failure (HF) in patients presenting with acute coronary syndromes and elevated cardiac markers is unclear. The authors performed an analysis of patients enrolled in the Internet Tracking Registry of Acute Coronary Syndromes (i*trACS). Cardiac marker measurement and cardiac catheterization were performed in 1174 patients. Of these, 116 (9.9%) had heart failure (HF). Coronary artery disease (CAD) was found in 61 (52.6%) patients in the HF group and 581 (54.9%) in the group without HF. In the non-HF cohort, positive markers occurred in 306 patients, in whom 217 (70.9%) had CAD at catheterization. In the HF subset, 24 patients had positive biomarkers and 15 (62.5%) had CAD. A history of HF did not lessen the likelihood of CAD as evidenced by angiography and does not diminish the utility of cardiac markers in diagnosing acute coronary syndromes.
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PMID:Elevated serum cardiac markers predict coronary artery disease in patients with a history of heart failure who present with chest pain: insights from the i*trACS registry. 1754 9

Mechanical circulatory support (MCS) devices are a guideline-recommended treatment option for a small subset of advanced heart failure patients. MCS has the potential to become more prominent in the management of Acute Heart Failure Syndromes (AHFS) as device technology advances and as clinical trials consistently discover neutral or harmful effects with pharmacologic therapies hypothesized to be beneficial in this population. While it is now possible to identify AHFS patients who are at high risk of death, the therapeutic options available to improve their long-term outcomes are limited. MCS therapy in this population offers a "bridge to recovery" strategy; these patients may have viable myocardium that responds favorably to the influence of MCS on neurohormones, cytokines, and/or reverse remodeling. Patients at high risk for mortality who have a substantial likelihood of benefiting from MCS can be easily identified using standard clinical criteria developed from large observational databases. MCS technology is rapidly evolving, and risks related to implantation are declining. It is evident that rigorous clinical trial testing of the potential risks, benefits, and economic implications of MCS in patients with AHFS will need to be conducted before the "routine" application of this aggressive therapy. This paper examines the rationale for conducting trials of MCS devices in patients with AHFS, and it explores considerations for patient selection and appropriate endpoints. This manuscript was generated from discussions on this issue during the third international meeting of the International Working Group on AHFS held in Washington, DC, April 8-9, 2006.
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PMID:Mechanical circulatory support devices for acute heart failure syndromes: considerations for clinical trial design. 1854 44

During pregnancy, the changes of cardiovascular physiology can impose additional load and risk on the cardiovascular system of women with heart disease. Care of women with heart disease and childbearing potential should include preconception risk stratification and counselling. Risk stratification rests on a carefully obtained history and examination, electrocardiography and echocardiography. Exercise capacity is an important predictor of maternal cardiovascular events. High-risk conditions include severe pulmonary hypertension, cyanotic lesions, severe left ventricular obstruction and aortic disease in Marfan-Syndrome. High-risk patients should be referred to and cared for by tertiary centres. A multidisciplinary team approach with cardiologists, obstetricians and anaesthetists during pregnancy, delivery and the postpartum period is recommended. Meticulous attention should be paid to effective anticoagulation for prosthetic heart valves. Risks and benefits of the anticoagulation strategy should be fully discussed with the patient. Peripartal cardiomyopathy is a disease that occurs during he late stages of pregnancy and the peripartum period and is associated with congestive heart failure, thrombembolism, cardiac death and recurrence in subsequent pregnancies. Dilated cardiomyopathy with impaired functional reserve or markedly impaired left ventricular function constitutes a high risk for the pregnant women. In addition to sodium restriction, treatment of heart failure consists of loop diuretics, vasodilators, digoxin and beta-blockers, if appropriate. Coronary heart disease and myocardial infarction are rare during pregnancy but should be considered in women with chest pain. Pharmacological therapy of rhythm disorders should be reserved for arrhythmias resulting in maternal or fetal hemodynamic compromise and for arrhythmias with intolerable symptoms.
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PMID:[Heart disease in pregnancy]. 1868 10

Cardiomyopathy is a serious disorder of the heart muscle and, although rare, it is potentially devastating in children. Funded by the National Heart Lung and Blood Institute since 1994, the Pediatric Cardiomyopathy Registry (PCMR) was designed to describe the epidemiology and clinical course of selected CMs in patients 18 years old or younger and to promote the development of etiology-specific prevention and treatment strategies. Currently, data from more than 3,000 children with cardiomyopathy have been entered in the PCMR database with annual follow-up continuing until death, heart transplant, or loss-to-follow up. Using PCMR data, the incidence of cardiomyopathy in two large regions of the United States is estimated to be 1.13 cases per 100,000 children. Only 1/3 of children had a known etiology at the time of cardiomyopathy diagnosis. Diagnosis was associated with certain patient characteristics, family history, echocardiographic findings, laboratory testing, and biopsy. Greater incidence was found in boys and infants (<1 yr) for both dilated and hypertrophic cardiomyopathy (DCM, HCM) and black race for only DCM. In DCM, prognosis is worse in older children (>1yr), heart failure (HF) at diagnosis or idiopathic etiology. For HCM, worse prognosis is associated with inborn errors of metabolism or combination of HCM and another cardiomyopathy functional type. The best outcomes were observed in children presenting at age >1 yr with idiopathic HCM. PCMR data have enabled analysis of patients with cardiomyopathy and muscular dystrophy, as well as Noonan Syndrome. Currently, collaborations with the Pediatric Heart Transplant Study group and a newly established Pediatric Cardiomyopathy Biologic Specimen Repository at Texas Children's Hospital will continue to yield important results. The PCMR is the largest and most complete multi-center prospective data resource regarding the etiology, clinical course and outcomes for children with cardiomyopathy.
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PMID:The Pediatric Cardiomyopathy Registry: 1995-2007. 1934 86

Acute Heart Failure Syndromes are defined as the rapid progression, or de novo presentation, of heart failure signs and symptoms. When clinical signs of low cardiac output are present, therapy with positive inotropic agents in an acute cardiac care unit is mandatory. Three classes of inotropic drugs are currently available, including beta-adrenergic agonists (especially dobutamine), phosphodiesterase inhibitors (such as milrinone) and the recently developed calcium sensitizers (levosimendan). In this article, we summarize the mechanisms of action of these different classes of drugs, and also discuss important issues regarding their clinical indications and the potential risks associated with their use.
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PMID:[Inotropic agents for treatment of acute heart failure syndromes in intensive care]. 2008 71

Pulmonary arterial hypertension (PAH) is a rare and incurable disease, related to right ventricle overload and failure, which are late consequences of asymptomatic progressive pulmonary vascular occlusion. The clinical approach requires: a high clinical suspicion; the detection and confirmation of PAH by echo-Doppler and right heart catheterisation; identification of an etiology; assessment of functionality and life expectancy; and reversibility testing. We present the case of a 68-year-old male patient presenting with progressive fatigability and shortness of breath, abnormal heart beats in the last 4 years, aggravated in the last year. Clinical findings showed signs of cardiac failure. Multiple echocardiographies demonstrated right atrial and right ventricular dilatation, with severe PAH, subsequent severe pulmonary and tricuspid regurgitation, mild mitral and aortic regurgitation and efficient left ventricular function. Subsequent cardiac catheterization confirms severe PAH, excludes VSD, and sees a left-to-right shunt but an ASD could not be anatomically localized. Left ventricular function and the coronary arteries were normal. Transesophageal echocardiography demonstrated an ASD sinus venosus with bidirectional shunt associated with partial abnormal in pulmonary venous drainage, with right supranumery pulmonary vein with drainage in the sinus venosus, the upper and inferior right pulmonary veins flowing into the right atrium, the upper and inferior left pulmonary veins Bowing into the left atrium, associated to important superior and inferior vena cava dilatation. The patient receives treatment for right heart failure, oral anticoagulation, antiarrhythmic drugs, cardio-pulmonary rehabilitation is initiated and he is referred to a center specialised in PAH, for bosentan treatment. In this patient, it is surprising that even born with a potentially cyanogenic congenital heart disease, his condition is discovered at an advanced age on the edge for evolution towards an Eisenmenger Syndrome, being fairly asymptomatic until the last year when he receives treatment for left heart failure.
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PMID:[A rare cause of pulmonary arterial hypertension diagnosed in an elderly patient]. 2105 70


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